If you have 'the gene,' what are your options?

DNA gels projected onto face

Tim Flach/Stone via Getty Photo

Tim Flach/Stone via Getty Photo

Dr. Judy C. Boughey, Mayo Clinic

Q: I'm 31 and have tested positive for the breast cancer "gene" (BRCA1), and I have a family history of breast cancer. I don't feel comfortable with the idea of prophylactic mastectomy at this time. Are there other things I can do to prevent cancer without surgery? Is there an age when I should definitely consider a mastectomy?

A: For women like you who have a mutation in the BRCA1 or BRCA2 gene — genes linked to breast and ovarian cancer — surgical removal of the breasts can significantly reduce your cancer risk. There's no clear right or wrong answer about if or when that should be done, however. It is an individual choice for you to make after learning as much as you can about your own situation, talking with your doctor and carefully considering what you prefer.

Women who have harmful changes, or mutations, in the BRCA1 or BRCA2 gene have a much higher risk of developing breast or ovarian cancer than other people. Having one of these gene mutations does not mean you'll definitely get cancer, though. There are a variety of things you can do that may lower your cancer risk.

Surgical removal of healthy breast tissue is one way to reduce your risk and help prevent cancer. This procedure, called prophylactic mastectomy, lowers breast cancer risk by about 90 percent. Surgical removal of healthy fallopian tubes and ovaries, a procedure known as prophylactic salpingo-oophorectomy, can help too. Salpino-oophorectomy lowers breast cancer risk by 50 percent in premenopausal women and reduces ovarian cancer risk by more than 90 percent in both pre- and postmenopausal women.

If you do decide to have surgery at some point, there's no set age by which it must happen. It should be when it feels right to you. Although not driven by data, many women who choose prophylactic mastectomy often have it a few years earlier than the age at which their family member developed breast cancer.

Monitoring is another option. Many people who've tested positive for the BRCA1 or BRCA2 mutation choose to be part of a high-risk surveillance program rather than having surgery. These programs offer close monitoring, such as having clinical breast exams every six months and mammograms and magnetic resonance imaging (MRI) exams every year. These tests don't prevent breast cancer, but they may help detect it early. You may also choose to perform monthly breast self-exams to become familiar with the normal texture of your breast tissue. Worrisome breast changes may be easier for you to spot early if you know what's normal.

Careful monitoring for ovarian cancer usually involves having appointments twice a year that include pelvic exams and transvaginal ultrasound imaging. Blood tests to measure your cancer antigen 125 levels also may be included as part of surveillance for ovarian cancer.

Some prescription medications, such as tamoxifen, may help lower your cancer risk too. These are not good choices for everyone, though, so talk to your doctor about whether taking one would be appropriate for you. The risk reduction is greater for BRCA2 than BRCA1.

Dr. Judy C. Boughey is a breast surgeon at the Mayo Clinic in Rochester, Minn.